RICHARD GRUNDY richard.grundy@nottingham.ac.uk
Professor of Paediatric Neuro-Oncology
Processed pseudogenes acquired somatically during cancer development
GRUNDY, RICHARD; Provenzano, Elena; Cooke, Susanna L.; van de Vijver, Marc; Shlien, Adam; Richardson, Andrea L.; Marshall, John; Purdie, Colin; Pipinikas, Christodoulos P.; Pinder, Sarah; Martincorena, Inigo; Mac Grogan, Gaetan; Tubio, Jose M.C.; Vincent-Salomon, Anne; Li, Yilong; Larsimont, Denis; Menzies, Andrew; Grabau, Dorthe; Mudie, Laura; Sauer, Torill; Garred, ?ystein; Ramakrishna, Manasa; Ehinger, Anna; Yates, Lucy; Van den Eynden, Gert G.; Davies, Helen; van Deurzen, C.H.M; Bolli, Niccolo; Salgado, Roberto; Bignell, Graham R.; Brock, Jane E.; Tarpey, Patrick S.; Lakhani, Sunil R.; Behjati, Sam; Giri, Dilip D.; Nik-Zainal, Serena; Arnould, Laurent; Papaemmanuil, Elli; Jocelyne Jacquemier; Teixeira, Vitor H.; Treilleux, Isabelle; Raine, Keiran; Caldas, Carlos; O?Meara, Sarah; Chin, Suet-Feung; Dodoran, Maryam S.; Fatima, Aquila; Teague, Jon W.; Thompson, Alastair M.; Butler, Adam P.; Stenhouse, Alasdair; Iacobuzio-Donahue, Christine; Foekens, John; Santarius, Thomas; Martens, Jo...
Authors
Elena Provenzano
Susanna L. Cooke
Marc van de Vijver
Adam Shlien
Andrea L. Richardson
John Marshall
Colin Purdie
Christodoulos P. Pipinikas
Sarah Pinder
Inigo Martincorena
Gaetan Mac Grogan
Jose M.C. Tubio
Anne Vincent-Salomon
Yilong Li
Denis Larsimont
Andrew Menzies
Dorthe Grabau
Laura Mudie
Torill Sauer
�ystein Garred
Manasa Ramakrishna
Anna Ehinger
Lucy Yates
Gert G. Van den Eynden
Helen Davies
C.H.M van Deurzen
Niccolo Bolli
Roberto Salgado
Graham R. Bignell
Jane E. Brock
Patrick S. Tarpey
Sunil R. Lakhani
Sam Behjati
Dilip D. Giri
Serena Nik-Zainal
Laurent Arnould
Elli Papaemmanuil
Jocelyne Jacquemier
Vitor H. Teixeira
Isabelle Treilleux
Keiran Raine
Carlos Caldas
Sarah O�Meara
Suet-Feung Chin
Maryam S. Dodoran
Aquila Fatima
Jon W. Teague
Alastair M. Thompson
Adam P. Butler
Alasdair Stenhouse
Christine Iacobuzio-Donahue
John Foekens
Thomas Santarius
John Martens
Richard G. Grundy
Anieta Sieuwerts
David Malkin
Arjen Brinkman
Mel Greaves
Henk Stunnenberg
Nikhil Munshi
Paul N. Span
Adrienne M. Flanagan
Fred Sweep
David Bowtell
Christine Desmedt
Sancha Martin
Christos Sotiriou
Denis Larsimont
Gilles Thomas
Jorge S. Reis-Filho
Annegein Broeks
Alex Boussioutas
Anita Langerod
Jack A. Taylor
Samuel Aparicio
Neil D. Hayes
Peter T. Simpson
Sam M. Janes
Laura van �t Veer
P. Andrew Futreal
Jo�runn Erla Eyfjo�rd
Michael R. Stratton
Holmfridur Hilmarsdottir
Ultan McDermott
Jon G. Jonasson
Peter J. Campbell
Anne-Lise B�rresen-Dale
Ming Ta Michael Lee
Bernice Huimin Wong
Benita Kiat Tee Tan
Gerrit K.J Hooijer
Abstract
Cancer evolves by mutation, with somatic reactivation of retrotransposons being one such mutational process. Germline retrotransposition can cause processed pseudogenes, but whether this occurs somatically has not been evaluated. Here we screen sequencing data from 660 cancer samples for somatically acquired pseudogenes. We find 42 events in 17 samples, especially non-small cell lung cancer (5/27) and colorectal cancer (2/11). Genomic features mirror those of germline LINE element retrotranspositions, with frequent target-site duplications (67%), consensus TTTTAA sites at insertion points, inverted rearrangements (21%), 5? truncation (74%) and polyA tails (88%). Transcriptional consequences include expression of pseudogenes from UTRs or introns of target genes. In addition, a somatic pseudogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated expression from that allele. Thus, formation of processed pseudogenes represents a new class of mutation occurring during cancer development, with potentially diverse functional consequences depending on genomic context.
Journal Article Type | Article |
---|---|
Acceptance Date | Mar 13, 2014 |
Online Publication Date | Apr 9, 2014 |
Publication Date | Apr 9, 2014 |
Deposit Date | Aug 25, 2017 |
Publicly Available Date | Dec 2, 2020 |
Journal | Nature Communications |
Electronic ISSN | 2041-1723 |
Publisher | Nature Publishing Group |
Peer Reviewed | Peer Reviewed |
Volume | 5 |
Article Number | 3644 |
DOI | https://doi.org/10.1038/ncomms4644 |
Public URL | https://nottingham-repository.worktribe.com/output/1112607 |
Publisher URL | https://www.nature.com/articles/ncomms4644 |
PMID | 24714652 |
Additional Information | Cooke, S., Shlien, A., Marshall, J. et al. Processed pseudogenes acquired somatically during cancer development. Nat Commun 5, 3644 (2014). https://doi.org/10.1038/ncomms4644 |
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